Autism: a study to get excited about. Changes in DNA are linked to autism

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Researchers from the Hospital for Sick Children, in Toronto, uncovered an array of genetic variations linked to the development of autism, with similarities that may allow doctors to diagnose it earlier and spur treatments.

“Most people in the field believe autistic individuals share common genetic variations in perhaps just a few genes,” said Stephen Sherer, the lead researcher in a study that analyzed 996 children with autism, their parents and a comparison group of 1,287 people without the condition.

The study found that sections of DNA are either duplicated or missing more often in people with autism. Autistic children inherited some changes from their parents, while other variations were new.

“The genetic variations we discovered are actually rare in frequency, meaning most individuals with autism are probably genetically quite unique, each having their own genetic form of autism.”

Past studies have suggested that as many as 90 percent of cases of autism spectrum disorder are genetic, but the genes responsible were widely sought and hard to find.

The researchers also identified dozens of genes that appear to raise the risk of autism, including many that may speed diagnosis. They were also able to tie the varied genetic findings to common biological pathways and networks, most of which help control the way the brain functions.

“What is critical now is to translate these basic biological findings into tools for early detection and treatment,” said Geraldine Dawson, chief science officer of Autism Speaks “Families want to understand what causes autism, and more important, how we can effectively treat this challenging condition.”